Gene
MT-TV
mitochondrially encoded tRNA-Val (GUN)
- HGNC 7500(opens in a new tab)
- Ensembl gene ENSG00000210077(opens in a new tab)
- NCBI Gene 4577(opens in a new tab)
Summary
- Cytogenetic location
- mitochondria
- Also known as
- trnV
- Previous symbols
- MTTV
- Locus type
- RNA, transfer
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Leigh Syndrome
One of 69 genes linked to it
A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
- ClinGen rates the link moderate
How a genome test reads MT-TV
2
positions in MT-TV where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
Traits linked to MT-TV
The Human Phenotype Ontology lists these as features of the rare conditions MT-TV can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- Chorea
- Disorder of involuntary muscle movements
- Dystonia
- Epilepsy
- Focal T2 hyperintense basal ganglia lesion
- Generalized myoclonic seizure
- Grand mal seizures
Show 15 more traits
- Inability to coordinate movements when walking
- Nerve damage causing decreased feeling and movement
- Severe global developmental delay
- Abnormal prosody
- Bulbar signs
- Decreased reflex response
- Demyelinating peripheral neuropathy
- Increased reflexes
- Infantile spasms
- Loss of developmental milestones
- Segmental peripheral demyelination/remyelination
- Dementia
- Encephalopathy
- Migraine
- Weakness of one side of body
Abnormality of the cardiovascular system
- Cardiac conduction abnormality
- Enlarged and thickened heart muscle
- Stretched and thinned heart muscle
- Abnormal heart rate
- Abnormal left ventricular function
- Cardiac failure
- High blood pressure
- Left ventricular hypertrophy
Show 2 more traits
Laboratory abnormality
- Abnormality of Krebs cycle metabolism
- Increased CSF lactate
- High urine lactic acid levels
- Higher than normal levels of lactate in blood
- Fever
- Hypothermia
- Increased blood alanine
- Decreased circulating citrulline concentration
Show 2 more traits
Abnormality of the eye
- Pigmentary retinopathy
- Weakness of muscles controlling eye movement
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
- Rod-cone dystrophy
- Cerebral visual impairment
- Clouding of the lens of the eye at birth
- Eye muscle paralysis
Show 1 more trait
External links
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MT-TV gene: mitochondrially encoded tRNA-Val (GUN). Retrieved 17 October 2026, from https://dantelabs.com/genes/mt-tv
Dante Labs. MT-TV gene: mitochondrially encoded tRNA-Val (GUN) [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mt-tv
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